Promethease 0.1.82
Rs1045644
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs1045644 |
| hapmap | rs1045644 |
| hgdp | rs1045644 |
| ensembl | rs1045644 |
| gopubmed | rs1045644 |
| scholar | rs1045644 |
| rs1045644 | |
| pharmgkb | rs1045644 |
| hgvbaseg2p | rs1045644 |
| medrefsnp | rs1045644 |
| 23andMe | rs1045644 |
| SNP Nexus |
| Gene | COCH |
| Chromosome | 14 |
| Orientation | plus |
| Position | 30424847 |
| Genotype | Effect |
|---|---|
| rs1045644(C;C)* | ? |
| rs1045644(C;G)* | ? |
| rs1045644(G;G)* | ? |
| Venter snp | |
|---|---|
| Source | plos |
| Gene | COCH |
| allele | G |
| frequency | 0.417 |
| sift | TOLERATED |
| HuRef | 1103649023186 |
| Disease Association | Defects in COCH may contribute to Meniere disease (MIM:156000). Meniere disease is an autosomal dominant disorder characterized by hearing loss associated with episodic vertigo. Antibodies against COCH are found in 10% of Meniere patients. |
| ? | (C;C) (C;G) (G;G) |
|---|---|
|
| |
